Microbial and Environmental Factors Associated With Polyps Development in Familial Adenomatous Polyposis (MicrobEnvironment in FAP)

Microbial and Environmental Factors Associated With Polyps Development in Familial Adenomatous Polyposis

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder linked to a mutation in the APC gene, associated with the development of multiple colonic and duodenal adenomas, which in 100% of cases progress to colorectal cancer (CRC) if left untreated. Management of affected patients is usually based on prophylactic total colectomy with or without rectal preservation, followed by regular endoscopic surveillance of the duodenum and rectum or ileal reservoir. However, there is considerable inter- and intra-familial variability in the rate of adenoma appearance and development for identical mutations. This strongly suggests the additional role of environmental factors. Recently, the gut microbiota has been identified as a co-factor of carcinogenesis in patients with FAP, but no prospective evaluation of the association between the incidence and severity of adenomatous proliferations and a microbiological signature has been studied, particularly at duodenal level in operated patient.

Study Overview

• Status: Recruiting
• Conditions: Familial Adenomatous Polyposis
• Intervention / Treatment: Other: Sampling of feces and duodenal fluids

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Nicolas BENECH, MD PhD; Phone Number: +33 +33426109435; Email: nicolas.benech@chu-lyon.fr

Study Locations

• France
  • France
    • Lyon, France, France, 69003
      • Recruiting
      • Hôpital Edouard Herriot
      • Contact: Jean-Christophe SAURIN, MD PhD; Phone Number: +33 4 72 11 75 22; Email: Jean-christophe.saurin@chu-lyon.fr
    • Lyon, France, France, 69004
      • Recruiting
      • Hôpital de la Croix Rousse
      • Contact: Nicolas BENECH, MD PhD; Phone Number: +33 4 26 10 94 35; Email: nicolas.benech@chu-lyon.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with proven familial adenomatous polyposis genetically operated (total colectomy with ileoanal or ileorectal anastomosis), included in the national POLYPOSE database and with regular endoscopic follow-up with upper and lower GI endoscopy at Hôpital Edouard Herriot, Lyon, France or Hôpital de la Croix-Rousse, Lyon, France

Description

Inclusion Criteria:

• ≥18 years
• Non-opposition obtained
• Prophylactic colectomy for at least 2 years in the context of APC-related familial adenomatous polyposis with ileorectal or ileoanal anastomosis
• Included in the national POLYPOSE database
• Regular endoscopic follow-up with upper and lower GI endoscopy at Hôpital Edouard Herriot or Hôpital de la Croix-Rousse
• Having performed at least 2 endoscopies as part of follow-up

Exclusion Criteria:

• Antibiotic therapy within 2 months prior to stool sampling
• Taking probiotics for less than 1 month
• Person deprived of liberty by judicial or administrative decision

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Patients with genetically proven familial adenomatous polyposis undergoing surgery; Patients with familial adenomatous polyposis hospitalized for regular endoscopic follow-up by upper and lower digestive endoscopy at Hôpital Edouard Herriot, Lyon, France or Hôpital de la Croix-Rousse, Lyon, France

Other: Sampling of feces and duodenal fluids; Blood sampling (plasmotheque and serotheque): 2 tubes (EDTA (5mL) and dry (5mL)) during hospitalization; Fecal sampling (fecal library): A stool sample (approx. 2g) will be taken 48 hours before the endoscopy at home for outpatient or during hospitalization; Duodenal aspiration fluid (6-10 mL in total): before and after mucosal lavage with sterile isotonic saline on the day of endoscopy.; Food and Lifestyle Questionnaire (FFQ) during inclusion

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Fecal microbiota composition	Analysis of fecal microbiota composition as a function of the cumulative number of reservoir (rectum or ileal) adenomas treated over 3 consecutive endoscopies	Within 48 hours of endoscopy

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon

Study record dates

Study Major Dates

• Study Start (Actual): December 17, 2024
• Primary Completion (Estimated): December 17, 2028
• Study Completion (Estimated): May 17, 2029

Study Registration Dates

• First Submitted: September 24, 2024
• First Submitted That Met QC Criteria: September 24, 2024
• First Posted (Actual): September 26, 2024

Study Record Updates

• Last Update Posted (Actual): May 27, 2026
• Last Update Submitted That Met QC Criteria: May 22, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: colorectal cancer; nutrition; microbiota; Familial adenomatous polyposis
• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Genetic Diseases, Inborn; Intestinal Diseases; Neoplasms by Histologic Type; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Intestinal Neoplasms; Rectal Diseases; Neoplasms, Glandular and Epithelial; Colonic Diseases; Adenoma; Neoplastic Syndromes, Hereditary; Adenomatous Polyps; Intestinal Polyposis; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Colorectal Neoplasms; Adenomatous Polyposis Coli
• Other Study ID Numbers: 69HCL24_0139; 2024-A01814-43 (Other Identifier: Agence nationale de sécurité du médicament et des produits de santé)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No